Incidental Mutation 'R6003:Tmem214'
ID |
478456 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tmem214
|
Ensembl Gene |
ENSMUSG00000038828 |
Gene Name |
transmembrane protein 214 |
Synonyms |
1110039B18Rik, 4921530J21Rik |
MMRRC Submission |
043252-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.575)
|
Stock # |
R6003 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
31026923-31034813 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 31028068 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Lysine
at position 96
(T96K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000144615
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031058]
[ENSMUST00000114716]
[ENSMUST00000200692]
[ENSMUST00000201203]
|
AlphaFold |
Q8BM55 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000031058
|
SMART Domains |
Protein: ENSMUSP00000031058 Gene: ENSMUSG00000029166
Domain | Start | End | E-Value | Type |
Pfam:CH
|
14 |
114 |
4.1e-10 |
PFAM |
low complexity region
|
201 |
214 |
N/A |
INTRINSIC |
Pfam:EB1
|
219 |
257 |
1.4e-17 |
PFAM |
low complexity region
|
266 |
280 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000114716
AA Change: T96K
PolyPhen 2
Score 0.209 (Sensitivity: 0.92; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000110364 Gene: ENSMUSG00000038828 AA Change: T96K
Domain | Start | End | E-Value | Type |
low complexity region
|
16 |
36 |
N/A |
INTRINSIC |
low complexity region
|
84 |
94 |
N/A |
INTRINSIC |
Pfam:DUF2359
|
172 |
638 |
8e-247 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000200692
|
SMART Domains |
Protein: ENSMUSP00000143890 Gene: ENSMUSG00000029166
Domain | Start | End | E-Value | Type |
Pfam:CH
|
14 |
114 |
2.8e-12 |
PFAM |
low complexity region
|
186 |
199 |
N/A |
INTRINSIC |
Pfam:EB1
|
204 |
242 |
1.6e-21 |
PFAM |
low complexity region
|
251 |
265 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000201203
AA Change: T96K
PolyPhen 2
Score 0.522 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000144615 Gene: ENSMUSG00000038828 AA Change: T96K
Domain | Start | End | E-Value | Type |
low complexity region
|
16 |
36 |
N/A |
INTRINSIC |
low complexity region
|
84 |
94 |
N/A |
INTRINSIC |
Pfam:DUF2359
|
217 |
683 |
6.9e-246 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201234
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201347
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202951
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202534
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202008
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202774
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202050
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.4%
- 10x: 97.2%
- 20x: 90.9%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A4galt |
T |
C |
15: 83,112,312 (GRCm39) |
E157G |
probably benign |
Het |
Abcb11 |
T |
C |
2: 69,073,811 (GRCm39) |
K1238R |
probably benign |
Het |
Ankar |
T |
A |
1: 72,738,046 (GRCm39) |
E45D |
probably damaging |
Het |
Antxrl |
G |
T |
14: 33,797,592 (GRCm39) |
K522N |
possibly damaging |
Het |
Ap1m1 |
A |
G |
8: 73,003,011 (GRCm39) |
Y93C |
probably damaging |
Het |
As3mt |
C |
T |
19: 46,696,567 (GRCm39) |
T35M |
possibly damaging |
Het |
Aspg |
T |
C |
12: 112,079,476 (GRCm39) |
S85P |
probably damaging |
Het |
Cachd1 |
T |
C |
4: 100,809,216 (GRCm39) |
S234P |
possibly damaging |
Het |
Ccdc3 |
T |
C |
2: 5,146,218 (GRCm39) |
|
probably null |
Het |
Cnpy1 |
T |
C |
5: 28,450,759 (GRCm39) |
T16A |
probably benign |
Het |
Cope |
T |
C |
8: 70,757,285 (GRCm39) |
L43P |
probably benign |
Het |
E2f8 |
T |
C |
7: 48,520,525 (GRCm39) |
M599V |
probably benign |
Het |
Eif3a |
A |
T |
19: 60,755,319 (GRCm39) |
D954E |
unknown |
Het |
Gfpt1 |
T |
A |
6: 87,065,230 (GRCm39) |
|
probably null |
Het |
Ggps1 |
T |
G |
13: 14,228,587 (GRCm39) |
S145R |
probably benign |
Het |
Gon4l |
A |
G |
3: 88,803,400 (GRCm39) |
D1337G |
probably damaging |
Het |
Gtf2a1l |
G |
T |
17: 89,001,531 (GRCm39) |
G82V |
probably damaging |
Het |
Gucy1b1 |
C |
A |
3: 81,965,584 (GRCm39) |
L87F |
probably damaging |
Het |
Hoxc9 |
T |
C |
15: 102,890,311 (GRCm39) |
V76A |
probably benign |
Het |
Ints2 |
T |
C |
11: 86,129,294 (GRCm39) |
E460G |
probably damaging |
Het |
Kdm4b |
C |
T |
17: 56,703,916 (GRCm39) |
R756W |
probably damaging |
Het |
Lax1 |
T |
A |
1: 133,611,834 (GRCm39) |
I34F |
probably benign |
Het |
Marveld3 |
A |
T |
8: 110,680,960 (GRCm39) |
C312S |
probably damaging |
Het |
Ncoa2 |
T |
C |
1: 13,237,254 (GRCm39) |
D824G |
possibly damaging |
Het |
Nrxn2 |
C |
A |
19: 6,548,358 (GRCm39) |
A17D |
possibly damaging |
Het |
Nup133 |
A |
T |
8: 124,665,031 (GRCm39) |
I220N |
probably damaging |
Het |
Nup205 |
T |
C |
6: 35,189,751 (GRCm39) |
V984A |
probably benign |
Het |
Nup54 |
A |
T |
5: 92,570,853 (GRCm39) |
D318E |
probably damaging |
Het |
Obp2a |
A |
T |
2: 25,591,151 (GRCm39) |
K94N |
probably damaging |
Het |
Or2ak5 |
A |
T |
11: 58,611,196 (GRCm39) |
I226N |
probably benign |
Het |
Or5b3 |
T |
C |
19: 13,388,403 (GRCm39) |
S157P |
probably benign |
Het |
Pappa2 |
T |
C |
1: 158,763,820 (GRCm39) |
I564V |
probably benign |
Het |
Parpbp |
A |
G |
10: 87,969,020 (GRCm39) |
V142A |
possibly damaging |
Het |
Rdh16f2 |
A |
T |
10: 127,712,201 (GRCm39) |
R219S |
probably benign |
Het |
Rfx6 |
C |
T |
10: 51,584,683 (GRCm39) |
R228C |
probably damaging |
Het |
Rpap2 |
A |
G |
5: 107,749,767 (GRCm39) |
|
probably null |
Het |
Rskr |
T |
G |
11: 78,183,846 (GRCm39) |
|
probably null |
Het |
Slc15a2 |
T |
C |
16: 36,574,910 (GRCm39) |
I531V |
probably benign |
Het |
Srebf1 |
T |
C |
11: 60,097,930 (GRCm39) |
E58G |
possibly damaging |
Het |
Usp19 |
T |
C |
9: 108,373,579 (GRCm39) |
Y691H |
probably damaging |
Het |
Vmn1r86 |
C |
T |
7: 12,836,125 (GRCm39) |
W200* |
probably null |
Het |
Vmn2r8 |
A |
T |
5: 108,945,248 (GRCm39) |
S786R |
probably damaging |
Het |
Vps52 |
T |
A |
17: 34,175,068 (GRCm39) |
M1K |
probably null |
Het |
Zzef1 |
T |
A |
11: 72,714,891 (GRCm39) |
|
probably null |
Het |
|
Other mutations in Tmem214 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01083:Tmem214
|
APN |
5 |
31,033,437 (GRCm39) |
missense |
probably benign |
0.15 |
IGL02119:Tmem214
|
APN |
5 |
31,030,090 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02123:Tmem214
|
APN |
5 |
31,030,090 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02124:Tmem214
|
APN |
5 |
31,030,090 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02126:Tmem214
|
APN |
5 |
31,030,090 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02186:Tmem214
|
APN |
5 |
31,030,090 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02395:Tmem214
|
APN |
5 |
31,030,090 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02396:Tmem214
|
APN |
5 |
31,030,090 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02397:Tmem214
|
APN |
5 |
31,030,090 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02400:Tmem214
|
APN |
5 |
31,030,090 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02403:Tmem214
|
APN |
5 |
31,030,090 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02404:Tmem214
|
APN |
5 |
31,030,090 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02539:Tmem214
|
APN |
5 |
31,030,090 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02544:Tmem214
|
APN |
5 |
31,030,090 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02934:Tmem214
|
APN |
5 |
31,028,888 (GRCm39) |
missense |
probably benign |
0.26 |
PIT4382001:Tmem214
|
UTSW |
5 |
31,028,795 (GRCm39) |
missense |
possibly damaging |
0.89 |
R0501:Tmem214
|
UTSW |
5 |
31,029,876 (GRCm39) |
missense |
probably damaging |
1.00 |
R0519:Tmem214
|
UTSW |
5 |
31,027,012 (GRCm39) |
start codon destroyed |
probably null |
0.98 |
R0675:Tmem214
|
UTSW |
5 |
31,029,169 (GRCm39) |
missense |
possibly damaging |
0.70 |
R1204:Tmem214
|
UTSW |
5 |
31,033,134 (GRCm39) |
missense |
probably damaging |
0.97 |
R1616:Tmem214
|
UTSW |
5 |
31,028,907 (GRCm39) |
nonsense |
probably null |
|
R2096:Tmem214
|
UTSW |
5 |
31,033,714 (GRCm39) |
missense |
probably damaging |
1.00 |
R2219:Tmem214
|
UTSW |
5 |
31,030,975 (GRCm39) |
missense |
possibly damaging |
0.72 |
R5635:Tmem214
|
UTSW |
5 |
31,028,861 (GRCm39) |
missense |
probably damaging |
1.00 |
R6744:Tmem214
|
UTSW |
5 |
31,031,372 (GRCm39) |
missense |
probably damaging |
1.00 |
R7208:Tmem214
|
UTSW |
5 |
31,028,065 (GRCm39) |
missense |
possibly damaging |
0.52 |
R8155:Tmem214
|
UTSW |
5 |
31,029,136 (GRCm39) |
missense |
possibly damaging |
0.56 |
R8335:Tmem214
|
UTSW |
5 |
31,029,466 (GRCm39) |
missense |
possibly damaging |
0.85 |
R9562:Tmem214
|
UTSW |
5 |
31,027,043 (GRCm39) |
nonsense |
probably null |
|
R9565:Tmem214
|
UTSW |
5 |
31,027,043 (GRCm39) |
nonsense |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- ACTGTACAGTGGGATCTGGG -3'
(R):5'- GCTCACCTATGTTTCTGACAAATACC -3'
Sequencing Primer
(F):5'- ACAGTGGGATCTGGGGTCTTAAG -3'
(R):5'- ACATTCTTTCTATTCTAAGTGCACG -3'
|
Posted On |
2017-06-26 |